CASE REPORT |
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Year : 2022 | Volume
: 25
| Issue : 12 | Page : 2077-2080 |
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Identification of a novel mutation in ALMS1 in a Chinese patient with monogenic diabetic syndrome by whole-exome sequencing
Ming Zhong, Ling-Ning Huang, Song-Jing Zhang, Sun-Jie Yan
Department of Endocrinology; Fujian Diabetes Research Institute; Metabolic Diseases Research Institute, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian, China
Correspondence Address:
Dr. Sun-Jie Yan 20 Chazhong Road, Taijiang District, Fuzhou - 350 005, Fujian China
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/njcp.njcp_544_22
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Alstrom syndrome (AS) is one type of monogenic diabetic syndromes caused by mutation in the ALMS1. Due to rare prevalence and overlaps of clinical symptoms, monogenic diabetes is often misdiagnosed. Here, we report a Chinese diabetes patient with poor blood glucose control and insulin resistance. With whole-exome sequencing (WES), this patient was classified into monogenic diabetes and diagnosed as AS with one novel gene mutation identified. This study highlights the clinical application of WES in the diagnosis of monogenic diabetes.
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